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Klinische FragestellungPränatale pontocerebelläre Hypoplasie, Differentialdiagnose

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Pränatale pontocerebelläre Hypoplasie mit 16 bzw. zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0008
Anzahl Gene
25 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,5 kb (Core-/Core-canditate-Gene)
52,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
AMPD22478NM_001368809.2AR
CASK2766NM_003688.3XL
CHMP1A591NM_002768.5AR
CLP11086NM_001142597.2AR
COASY1695NM_025233.7AR
EXOSC3828NM_016042.4AR
RARS21737NM_020320.5AR
SEPSECS1506NM_016955.4AR
TBC1D232100NM_001199198.3AR
TSEN15390NM_001127394.4AR
TSEN21398NM_025265.4AR
TSEN34933NM_024075.5AR
TSEN541581NM_207346.3AR
VLDLR2622NM_003383.5AR
VPS532499NM_001128159.3AR
VRK11191NM_003384.3AR
EXOSC8831NM_181503.3AR
OPHN12409NM_002547.3XLR
PCLO14808NM_014510.3AR
TOE11488NM_025077.4AR
TUBA1A1356NM_006009.4AD
TUBA81350NM_018943.3AR
TUBB2B1338NM_178012.5AD
TUBB31353NM_006086.4AD
VPS512375
  • Keine OMIM-Gs verknüpft
NM_013265.4AR

Infos zur Erkrankung

Klinischer Kommentar

Hypoplasie/Atrophie und/oder frühe Neurodegeneration des Kleinhirns, Pons. 8 Subtypen, meist AR vererbt

 

Synonyme
  • Allelic: Cone-rod dystrophy (UNC119)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Immunodeficiency 13 (UNC119)
  • Allelic: Intellectual disability [MONDO:0001071] (HEATR5B)
  • Allelic: Mental retardation, with/-hout nystagmus (CASK)
  • Allelic: Neurodegeneration with brain iron accumulation 6 (COASY)
  • Allelic: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
  • Allelic: Spastic paraplegia 63 (AMPD2)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Cortical dysplasia, complex, with other brain malformations 8 (TUBA8)
  • FG syndrome 4 (CASK)
  • Harel-Yoon syndrome: delayed dev., ID, truncal hypotonia, spasticity, peripheral neuropathy (ATAD3A)
  • Lissencephaly 2, Norman-Roberts type (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
  • Pontocerebellar hypoplasia [MONDO:0020135] (HEATR5B)
  • Pontocerebellar hypoplasia type 10 (CLP1)
  • Pontocerebellar hypoplasia type 11 (TBC1D23)
  • Pontocerebellar hypoplasia type 12 (COASY)
  • Pontocerebellar hypoplasia type 13 (VPS51)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 1B (EXOSC3)
  • Pontocerebellar hypoplasia type 1C (EXOSC8)
  • Pontocerebellar hypoplasia type 1E (SLC25A46)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia type 2C? [panelapp] (UNC119)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Pontocerebellar hypoplasia type 2E (VPS53)
  • Pontocerebellar hypoplasia type 2F (TSEN15)
  • Pontocerebellar hypoplasia type 3 (PCLO)
  • Pontocerebellar hypoplasia type 4 (TSEN54)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia type 6 (RAS2)
  • Pontocerebellar hypoplasia type 7 (TOE1)
  • Pontocerebellar hypoplasia type 8 (CHMP1A)
  • Pontocerebellar hypoplasia type 9 (AMPD2)
  • Pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome, neonatal lethal (ATAD3A)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.8

Bioinformatik und klinische Interpretation

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